Varaico: Literature-Extracted Genetic Variants

A1CF

266 papers

RefSeq Summary

Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation f...

Pfam Domains

RRM_1aa 58–127UCSCRNA recognition motif

RRM_1aa 138–203UCSCRNA recognition motif

RRM_1aa 233–297UCSCRNA recognition motif

DND1_DSRMaa 445–523UCSCdouble strand RNA binding domain from DEAD END PROTEIN 1

Gene Aliases

HGNC Name

APOBEC1 complementation factor

HGNC Alias Symbols

ACF; ASP; ACF64; ACF65; APOBEC1CF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014576.4

p.R196R

c.588G>A

Surrounding Variants

1 paper

NM_014576.4

p.A195V

c.584C>T

1 paper

NM_014576.4

p.H189_A193del0

c.565_579del15

1 paper

NM_014576.4

p.A192T

c.574G>A

1 paper

NM_014576.4

p.P201R

c.602C>G

1 paper

NM_014576.4

p.R190*

c.568C>T

1 paper

NM_014576.4

p.S188S

c.564T>C

1 paper

NM_014576.4

p.E185V

c.554A>T

1 paper

NM_014576.4

p.V184insFs

c.550_551insC

1 paper

NM_014576.4

p.V184M

c.550G>A

1 paper

NM_014576.4

p.F183Y

c.548T>A

2 papers

NM_014576.4

p.G180D

c.539G>A

1 paper

NM_014576.4

p.R179Q

c.536G>A